title: Richieri-costa and Pereira syndrome: severe phenotype.
abstract: Richieri-Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4-month-old boy with the most severe phenotype yet reported.
authors.affiliation: Clinical Geneticist, Hospital Pequeno Príncipe, Curitiba, Brazil. genetika@genetika.com.br
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Marcela
authors.initials: M
authors.lastname: Souza
authors.forename: Mariana C
authors.initials: MC
authors.lastname: Medeiros
authors.forename: Mayra
authors.initials: M
authors.lastname: Manfron
authors.forename: Debora C
authors.initials: DC
authors.lastname: Chong E Silva
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D003025:Clubfoot / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D014057:Tomography, X-Ray Computed
keywords: Richieri-Costa and Pereira syndrome; oral cleft; severe phenotype